There is no cure for LSDs. There are, however, many treatment options depending on the particular conditions and symptoms the person is experiencing.
General treatments such as physiotherapy, occupational therapy etc are vital in maintaining muscle and brain function and helping people with these disorders to overcome or manage their disabilities.
With some LSDs, eating a specific diet can help reeducate the amount of the accumulated substance which is produced. In others, specific treatments reduce the amount of accumulating substance the body produces. Both of these measures control the rate of deterioration but don't stop the disease entirely.
In certain sever cases, stem cell transplants are done to treat LSDs. Stem cell transplants for LSDs are still experimental and not universally accepted as the standard of care. Scientists are researching the possibility of gene therapy in the future to treat LSDs.
Enzyme Replacement Therapy (ERT)
Enzyme replacement therapy offers those with a LSD the chance to live a norma life. Using the latest biotechnical techniques, researchers have been able to re-create some of the enzymes which are deficient in certain LSDs.
ERT is an extremely new form of biologic treatment and was first made available in SA in 1994. ERT is available for Gauchers disease, Fabry disease and now Pompe Disease. Worldwide ERT is also available for MPS 1, 2 and 6 but these have not been registered locally yet.
Given usually intravenously (via injection into the vein) once every 2 weeks, ERT therapy allows the lysosomal accumulation to be minimized and improves cell functioning.
ERT can't always reverse the damage which has been done, The earlier treatment is started, the less are the chances of permanent damage.
In adults, ERT can improve muscle function such as the ability to walk. It prevents or delays sever disability and the need for permanent ventilation dependancy. In children it is life saving and can improve with both physical and mental development.
Like other chronic diseases such as diabetes, treatments for LSDs are life-long. If ERT is stopped, the condition will once again progress.
The costs of ERT depends on the type of LSD, dosage required severity of the disease and weight of the patient. Treatment can cost anywhere from R28000 to R350 000 per month. Fortunately, LSDs are a Prescribed Minimum Benefit, which means that medical schemes are obliged to pay for treatment, regardless of plan type.
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